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Human Genetics|July 16, 2005
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the proteinMarie Wattenhofer, Nilüfer Sahin-Calapoglu, Ditte Andreasen, et al.American Journal of Medical Genetics. Part A|September 14, 2007
MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutationErsan Kalay, Abdullah Uzumcu, Elmar Krieger, et al.Human Mutation|March 22, 2007
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairmentRob W J Collin, Ersan Kalay, Jaap Oostrik, et al.Nature Genetics|October 28, 2008
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humansZubair M Ahmed, Saber Masmoudi, Ersan Kalay, et al.Human Mutation|June 6, 2006
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing lossErsan Kalay, Yun Li, Abdullah Uzumcu, et al.American Journal of Human Genetics|January 9, 2008
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35Rob W J Collin, Ersan Kalay, Muhammad Tariq, et al.Pageof 4